Test Price
2,800 AEDโ Home Collection Available
TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 Genetic Test in UAE | 2800 AED | DHA Guidelines
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all seven Emirates.
- Clinical Guidance: Telephonic post-test result interpretation by a DHA-licensed Consultant Medical Genetics.
- Insurance & Billing: Direct billing verification and home collection booking via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4) NGS Test is a comprehensive genetic analysis that screens the entire coding region of the TUFM gene using Next-Generation Sequencing (NGS) on the Illumina NovaSeq 6000 platform. It detects single nucleotide variants, small insertions and deletions, and copy number changes with greater than 99.9% sensitivity, providing definitive molecular confirmation of this rare mitochondrial energy disorder.
| Feature | Our TUFM NGS Test | Closest Alternative (Exome/Genome Sequencing) |
|---|---|---|
| Methodology | Targeted NGS โ full TUFM gene sequencing + CNV analysis, backed by orthogonal Sanger confirmation | Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) with incidental findings |
| Diagnostic Yield for COXPD4 | >99% โ complete coverage of all coding exons, promoter, and flanking intronic regions | ~95% โ may miss deep intronic variants or CNVs depending on coverage |
| Turnaround Time & Cost | 3โ4 Weeks | 2800 AED โ focused, cost-effective, no secondary findings | 8โ16 Weeks | 5000โ12000 AED โ high cost, ambiguous variants of uncertain significance (VUS) |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Genetics, I emphasize that this targeted TUFM gene sequencing provides definitive molecular confirmation for families navigating unexplained mitochondrial encephalopathy, lactic acidosis, and neurodevelopmental regression. However, results must be interpreted alongside biochemical markers and clinical presentation. A positive result confirms the diagnosis, but a negative result does not fully exclude mitochondrial disease and may warrant broader mitochondrial genome sequencing.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
โ ๏ธ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is for diagnostic purposes only and does not replace ongoing metabolic management. Any change to supplements, cofactors, or supportive therapies must be guided by a metabolic specialist.
โ Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients who have received a hematopoietic stem cell transplant (HSCT) within the last six months (donor DNA contamination). Inability to provide informed consent (legal guardian required for minors per UAE Federal Law).
- ER Red Flags: If the patient is currently experiencing acute metabolic decompensation (persistent vomiting, encephalopathy, severe hypoglycaemia, or anion gap acidosis), immediately call 998 for emergency medical services. This test is not for acute crisis diagnosis.
Patient FAQ & Clinical Guidance
1. What is Combined Oxidative Phosphorylation Deficiency Type 4 and how does the TUFM gene cause it?
Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4) is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the TUFM gene, leading to impaired mitochondrial translation and energy failure in high-demand tissues such as the brain, heart, and muscle. The disorder typically manifests in infancy with lactic acidosis, hypotonia, failure to thrive, and severe neurological regression. Later-onset forms may present with exercise intolerance, cardiomyopathy, or chronic progressive external ophthalmoplegia. This NGS test reads every coding nucleotide of the TUFM gene to detect the exact DNA change, enabling precise diagnosis, family risk assessment, and prenatal or preimplantation genetic options.
2. How is the TUFM gene test performed and what should I expect during sample collection?
A DHA-licensed phlebotomist collects a standard 3โ5 mL venous blood sample or a painless buccal swab using a cold-chain kit that maintains DNA integrity from your home to our ISO-certified laboratory. No fasting or medication adjustments are required unless specifically instructed by your doctor. For infants and young children, a paediatric-friendly butterfly needle and topical anaesthetic cream are used. The sample is shipped under continuous temperature monitoring, and the entire processโfrom booking via WhatsApp to collectionโtakes less than 15 minutes.
3. Is home sample collection available across all Emirates?
Yes, we provide VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all seven Emirates from 8 AM to 11 PM, with full respect for patient privacy and data confidentiality. A certified and licensed phlebotomist will visit your home or place of residence equipped with sterile tools and a certified cold chain system. Please have your Emirates ID and any previous medical reports ready before the visit. For minors, UAE Federal Law requires a parent or guardian to be present and to sign the informed consent form.
UAE Regulatory & Data Privacy Adherence
This testing service complies with Federal Decree-Law No. 4 of 2016 on Medical Liability, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is processed and stored within the UAE under DHA/MOHAP encryption standards. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). For support and home collection booking, contact us via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Whole Blood (3-5 mL) or Buccal Swab (FTA Card) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina NovaSeq 6000 with Sanger Confirmation |
| ICD-10-CM Code | E88.49 |
| LOINC Code | 105406-5 |
| DHA Facility License & Address | DNA Labs UAE | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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